Disorders of Pituitary-Gonadal Function

Publisher Summary This chapter discusses the disorders of pituitary–gonadal function. A variety of lesions at the level of the hypothalamus, pituitary, or gonad may lead to disordered gonadal function, resulting in one or more of a number of specific clinical syndromes, depending on the nature of the disorder and the patient's sex and stage of sexual development at the time of its onset. Sexual ambiguity at birth reflects abnormalities of fetal sexual differentiation. Most cases of sexual ambiguity represent disorders of phenotypic sex in patients whose chromosomal and gonadal sex are concordant and clearly male or female. The clinical syndromes resulting from such disorders are designated male and female pseudohermaphroditism, respectively. Disorders of gonadal and chromosomal sex are much rarer causes of sexual ambiguity and produce a somewhat different clinical picture. Female pseudohermaphroditism results from virilization of an otherwise normal female fetus by excessive levels of androgen. Such infants have ovaries, fallopian tubes, uterus, and vagina, but the clitoris is hypertrophied and the labia majora rugose and bulbous, with variable degrees of fusion.